Congenital Hemolytic Anemia

Med Clin North Am. 2017 Mar;101(2):361-374. doi: 10.1016/j.mcna.2016.09.008. Epub 2016 Dec 8.


Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.

Keywords: Aplastic crisis; Hemolysis; Jaundice; Splenectomy.

Publication types

  • Review

MeSH terms

  • Anemia, Hemolytic, Congenital / diagnosis
  • Anemia, Hemolytic, Congenital / physiopathology*
  • Anemia, Hemolytic, Congenital / therapy*
  • Anemia, Hemolytic, Congenital Nonspherocytic / diagnosis
  • Anemia, Hemolytic, Congenital Nonspherocytic / therapy
  • Erythrocyte Membrane / metabolism
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis
  • Glucosephosphate Dehydrogenase Deficiency / therapy
  • Hematologic Tests
  • Hemoglobinopathies / diagnosis
  • Hemoglobinopathies / therapy
  • Humans
  • Pyruvate Kinase / deficiency
  • Pyruvate Metabolism, Inborn Errors / diagnosis
  • Pyruvate Metabolism, Inborn Errors / therapy
  • Severity of Illness Index
  • Splenectomy


  • Pyruvate Kinase

Supplementary concepts

  • Pyruvate Kinase Deficiency of Red Cells